Grumpy-XL schreef op 13 januari 2023 20:33:
In dit artikel schat men het in de USA gediagnosticeerde adps patiënten tussen 400 en 600
rarerevolutionmagazine.com/digitalspo...Activated PI3K delta syndrome (APDS) is a recently identified primary immunodeficiency first fully described in 2013.3 It is characterised as a primary immune regulatory disorder (PIRD). It is a combined immunodeficiency, meaning both B and T cells are affected, and is caused by variants (changes) in one of two genes.4 Its estimated prevalence worldwide is 1–2 per million as of 2013. For perspective, this means within the US population, based on early estimations (without a unique ICD-10-CM diagnosis code), that ~400-600 individuals may have been diagnosed with APDS. However, as genetic testing becomes more accessible for patients and patients are able to be re-tested (ie, PI panels did not start screening for APDS until ~2017), more patients are anticipated to be identified.